Incidental Mutation 'IGL01872:Mlxipl'
| ID |
178741 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mlxipl
|
| Ensembl Gene |
ENSMUSG00000005373 |
| Gene Name |
MLX interacting protein-like |
| Synonyms |
ChREBP, WS-bHLH, bHLHd14, Wbscr14 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.532)
|
| Stock # |
IGL01872
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
135118744-135167236 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 135142545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 120
(I120F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005507]
[ENSMUST00000128691]
[ENSMUST00000129008]
[ENSMUST00000142385]
[ENSMUST00000153519]
[ENSMUST00000201977]
|
| AlphaFold |
Q99MZ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005507
AA Change: I120F
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000005507
Gene: ENSMUSG00000005373
AA Change: I120F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
|
PDB:4GNT|B
|
117 |
137 |
1e-8 |
PDB |
|
low complexity region
|
261 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
603 |
N/A |
INTRINSIC |
|
HLH
|
667 |
721 |
1.14e-9 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128691
AA Change: I120F
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000121348
Gene: ENSMUSG00000005373
AA Change: I120F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
|
PDB:4GNT|B
|
117 |
137 |
9e-9 |
PDB |
|
low complexity region
|
261 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
603 |
N/A |
INTRINSIC |
|
SCOP:d1hloa_
|
658 |
709 |
6e-7 |
SMART |
|
Blast:HLH
|
667 |
699 |
1e-12 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129008
AA Change: I120F
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114933
Gene: ENSMUSG00000005373
AA Change: I120F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
|
PDB:4GNT|B
|
117 |
137 |
7e-9 |
PDB |
|
low complexity region
|
261 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
531 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141770
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142385
AA Change: I120F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144328
Gene: ENSMUSG00000005373
AA Change: I120F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
|
PDB:4GNT|B
|
117 |
137 |
7e-9 |
PDB |
|
low complexity region
|
261 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
531 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153519
AA Change: I120F
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000122198
Gene: ENSMUSG00000005373
AA Change: I120F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
|
PDB:4GNT|B
|
117 |
137 |
9e-9 |
PDB |
|
low complexity region
|
261 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
350 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
603 |
N/A |
INTRINSIC |
|
SCOP:d1am9a_
|
658 |
696 |
1e-5 |
SMART |
|
Blast:HLH
|
667 |
698 |
2e-12 |
BLAST |
|
low complexity region
|
728 |
744 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201977
AA Change: I120F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144299
Gene: ENSMUSG00000005373
AA Change: I120F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
34 |
N/A |
INTRINSIC |
|
PDB:4GNT|B
|
117 |
137 |
2e-6 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202431
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced glycolysis and lipogenesis and severe simple carbohydrate intolerance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
A |
T |
9: 124,058,120 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
G |
18: 65,437,824 (GRCm39) |
S1657P |
probably benign |
Het |
| Alx4 |
A |
G |
2: 93,507,818 (GRCm39) |
N371S |
probably benign |
Het |
| Cby1 |
T |
A |
15: 79,549,943 (GRCm39) |
W59R |
probably damaging |
Het |
| Chmp1a |
A |
T |
8: 123,932,976 (GRCm39) |
L159Q |
probably damaging |
Het |
| Ciz1 |
T |
C |
2: 32,268,121 (GRCm39) |
|
probably benign |
Het |
| Cnksr1 |
A |
G |
4: 133,956,275 (GRCm39) |
I603T |
probably benign |
Het |
| Dph1 |
A |
C |
11: 75,072,167 (GRCm39) |
F220C |
probably damaging |
Het |
| Epha4 |
T |
A |
1: 77,359,676 (GRCm39) |
M726L |
probably benign |
Het |
| Eps8l1 |
C |
T |
7: 4,475,295 (GRCm39) |
|
probably benign |
Het |
| Fbxo24 |
C |
A |
5: 137,611,987 (GRCm39) |
R313L |
probably damaging |
Het |
| Fgf4 |
C |
T |
7: 144,415,995 (GRCm39) |
R119* |
probably null |
Het |
| Grb10 |
T |
C |
11: 11,920,547 (GRCm39) |
T24A |
probably damaging |
Het |
| Ifi27l2a |
C |
T |
12: 103,401,719 (GRCm39) |
A2V |
probably damaging |
Het |
| Ipmk |
T |
A |
10: 71,208,706 (GRCm39) |
M165K |
probably damaging |
Het |
| Kcnk2 |
C |
T |
1: 188,988,780 (GRCm39) |
G266R |
probably damaging |
Het |
| Mak |
A |
C |
13: 41,210,131 (GRCm39) |
M35R |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,381,814 (GRCm39) |
V1423A |
probably damaging |
Het |
| Olfm4 |
T |
C |
14: 80,259,368 (GRCm39) |
*506Q |
probably null |
Het |
| Opn4 |
T |
A |
14: 34,319,166 (GRCm39) |
|
probably benign |
Het |
| Or13a26 |
T |
C |
7: 140,284,176 (GRCm39) |
L4P |
possibly damaging |
Het |
| Or52ab2 |
T |
C |
7: 102,970,179 (GRCm39) |
V187A |
probably benign |
Het |
| Or5g23 |
T |
A |
2: 85,438,673 (GRCm39) |
M194L |
probably benign |
Het |
| Otof |
G |
A |
5: 30,536,598 (GRCm39) |
|
probably benign |
Het |
| Pde5a |
G |
A |
3: 122,588,018 (GRCm39) |
|
probably null |
Het |
| Pik3r1 |
A |
T |
13: 101,825,625 (GRCm39) |
D87E |
probably benign |
Het |
| Rbm6 |
A |
T |
9: 107,660,914 (GRCm39) |
V883E |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,304,154 (GRCm39) |
S496G |
probably benign |
Het |
| Sap130 |
A |
G |
18: 31,807,473 (GRCm39) |
R427G |
probably damaging |
Het |
| Slc26a4 |
T |
C |
12: 31,589,202 (GRCm39) |
S415G |
probably benign |
Het |
| Slc5a1 |
T |
C |
5: 33,311,981 (GRCm39) |
S458P |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,748,167 (GRCm39) |
|
probably benign |
Het |
| Sspo |
G |
T |
6: 48,431,623 (GRCm39) |
V639L |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,729,077 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vps54 |
G |
A |
11: 21,256,940 (GRCm39) |
A683T |
probably damaging |
Het |
| Zfp354a |
A |
T |
11: 50,960,164 (GRCm39) |
N123I |
possibly damaging |
Het |
| Zfpm2 |
T |
C |
15: 40,965,783 (GRCm39) |
V624A |
probably benign |
Het |
|
| Other mutations in Mlxipl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00771:Mlxipl
|
APN |
5 |
135,161,632 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02694:Mlxipl
|
APN |
5 |
135,152,872 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03070:Mlxipl
|
APN |
5 |
135,161,307 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Scarlet
|
UTSW |
5 |
135,162,884 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
H8441:Mlxipl
|
UTSW |
5 |
135,152,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03054:Mlxipl
|
UTSW |
5 |
135,162,110 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0003:Mlxipl
|
UTSW |
5 |
135,162,043 (GRCm39) |
unclassified |
probably benign |
|
|
R0126:Mlxipl
|
UTSW |
5 |
135,161,177 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0458:Mlxipl
|
UTSW |
5 |
135,162,224 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0513:Mlxipl
|
UTSW |
5 |
135,166,117 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0580:Mlxipl
|
UTSW |
5 |
135,152,829 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0744:Mlxipl
|
UTSW |
5 |
135,161,329 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0827:Mlxipl
|
UTSW |
5 |
135,161,592 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1052:Mlxipl
|
UTSW |
5 |
135,142,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1241:Mlxipl
|
UTSW |
5 |
135,161,572 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1795:Mlxipl
|
UTSW |
5 |
135,136,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1903:Mlxipl
|
UTSW |
5 |
135,162,422 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2038:Mlxipl
|
UTSW |
5 |
135,135,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2064:Mlxipl
|
UTSW |
5 |
135,161,631 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2069:Mlxipl
|
UTSW |
5 |
135,135,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2081:Mlxipl
|
UTSW |
5 |
135,142,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2095:Mlxipl
|
UTSW |
5 |
135,150,974 (GRCm39) |
splice site |
probably benign |
|
|
R3114:Mlxipl
|
UTSW |
5 |
135,162,516 (GRCm39) |
splice site |
probably benign |
|
|
R4018:Mlxipl
|
UTSW |
5 |
135,161,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4090:Mlxipl
|
UTSW |
5 |
135,161,381 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4321:Mlxipl
|
UTSW |
5 |
135,164,304 (GRCm39) |
nonsense |
probably null |
|
|
R4414:Mlxipl
|
UTSW |
5 |
135,166,253 (GRCm39) |
unclassified |
probably benign |
|
|
R5706:Mlxipl
|
UTSW |
5 |
135,162,458 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6088:Mlxipl
|
UTSW |
5 |
135,162,884 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6508:Mlxipl
|
UTSW |
5 |
135,157,474 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6704:Mlxipl
|
UTSW |
5 |
135,166,094 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7060:Mlxipl
|
UTSW |
5 |
135,161,169 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7095:Mlxipl
|
UTSW |
5 |
135,162,884 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7128:Mlxipl
|
UTSW |
5 |
135,162,705 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7464:Mlxipl
|
UTSW |
5 |
135,162,482 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7510:Mlxipl
|
UTSW |
5 |
135,161,972 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7669:Mlxipl
|
UTSW |
5 |
135,161,224 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7737:Mlxipl
|
UTSW |
5 |
135,164,235 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7806:Mlxipl
|
UTSW |
5 |
135,163,397 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7910:Mlxipl
|
UTSW |
5 |
135,161,263 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8118:Mlxipl
|
UTSW |
5 |
135,166,102 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8363:Mlxipl
|
UTSW |
5 |
135,135,930 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8701:Mlxipl
|
UTSW |
5 |
135,136,045 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8725:Mlxipl
|
UTSW |
5 |
135,157,483 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9235:Mlxipl
|
UTSW |
5 |
135,157,541 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9566:Mlxipl
|
UTSW |
5 |
135,152,616 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9727:Mlxipl
|
UTSW |
5 |
135,150,388 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation